TSHRV656F Activating Variant of the Thyroid Stimulating Hormone Receptor Gene in Neonatal Onset Hyperthyroidism: A Case Review

• Päätekijät: Leman Kayaş (Tekijä), Emine Çamtosun (Tekijä), Ayşehan Akıncı (Tekijä), Rıfat Bircan (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: Galenos Yayincilik, 2022-03-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

An activating variant of the thyroid stimulating hormone receptor (TSHR) gene is one of the rare causes of neonatal hyperthyroidism. This disorder may occur as a result of an autosomal dominant inheritance or sporadically through de novo variation. Here we present a case of neonatal onset congenital...